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INDUSTRY & RESEARCH
How might this approach work in practice? Would it be something
that someone requested or do you think it could become standard
one day?
I imagine it will always be something that is requested. A doctor
might see a patient and find particular indications that [gene
sequencing] might be useful. I’m an immunologist and there are
some rare immunological disorders that we know are caused
by genetic defects, but in many cases it’s hard to predict which
particular gene will harbour that defect just from routine blood
tests and clinical assessment. Up until quite recently, the only way
to proceed beyond that was to go gene by gene, performing slow
and laborious sequencing to try to track down the variation in the
gene sequence that was responsible for causing the disease. What
will be possible now is to sequence all the genes and then use
sophisticated analysis tools to sort out which of the variations are
most likely to account for the patient’s disease.
It’s now possible to do that for disorders that are caused by a
single gene defect, and there are many of those sorts of diseases.
Each of them is rare but collectively they amount to a significant
burden of disease.
In the routine clinical setting, we’ll be concentrating on those
sorts of disorders, and then as time goes on and we understand
more about how genetic variation leads to disease, we’ll be able to
tackle some of the more common diseases as well.
What impact could that have on people who are falling ill or those
who are already taking medicines or undergoing treatments?
that accounts for only about 2 per cent of our total genetic
makeup. All of that is made up of a sequence of Gs, Cs, Ts and
As, so when we genotype someone, we simply determine that
sequence – the arrangement of Gs, Ts, Cs and As in a particular
segment of the genome.
What specifically will your team explore through the new centre?
Our group, and many other groups around the world, to be
honest, have been working hard to try to understand how
we can harness all the information that is available now from
variation across the human genome, to better understand
mechanisms of disease. There’s still a long way to go. There’s
still a lot to be discovered, but we’re now getting to the point
where we can use the information we do have to make
diagnoses, in some cases, in patients that were previously
undiagnosed. This is based on information that we, collectively,
around the world, have generated, about variations in the
human gene sequence, and it’s also become possible
because of technical developments that [give us the ability] to
sequence individuals’ genes in a rapid, efficient and relatively
cost-effective manner.
So, first, what we’re seeking to do is start to make the
transition from work that’s going on in discovery research labs
to having this same process as more of a routine diagnostic
service. To begin with, it will probably have relatively specific
and special applications, but it may become more broadly
applicable as time goes on.
If you have a rare disease and there’s an element of uncertainty
about the diagnosis and the mechanism of the disease, it poses
constant anxiety. It also often leads to many tests being performed,
and many of those don’t lead to an answer. This is often a difficult
situation for patients and their families to be in.
Simply having the tools to make an accurate diagnosis is a
significant advance. Beyond that, once we understand which
particular gene is responsible for causing a disease, that gives us an
avenue for understanding the mechanism of disease, and ultimately
that’s the best pathway to arriving at a precise therapy.
There’s a close connection between understanding how
variation across the genome causes disease, and arriving at
precision medicines, which are administered according to a
particular genetic abnormality that might be present in a patient to
cause their disease.
How far are we from being able to use this method of personalising
medications in Australian health services?
It’s far from routine, and our group in our centre, which has recently
been funded, is one effort in this direction. There are other efforts
taking place simultaneously in other states and territories around the
country, and collectively we’re working together to come up with
the best possible approach for patients across Australia so that we
can, first of all, expedite access to what is a revolution in healthcare,
but also do it in a way that ensures correct quality controls and
considers the ethical implications of doing these sorts of tests. [We
also have to] make sure the people who might use this information
are sufficiently informed about what it means to be able to use it in
the most effective way.
Things are moving relatively quickly. We’d like to see them
move as fast as possible, but we have to do it within those
constraints as well. Collectively, there is an effective move
underway towards personalised medicine in Australia. ■
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